Category: Statistics

Eur Arch Psychiatry Clin Neurosci. 2024 Nov 17. doi: 10.1007/s00406-024-01928-3. Online ahead of print.

ABSTRACT

In this article we aimed synthesize all available evidence regarding the effects of non-invasive brain stimulation (NIBS) techniques combined with mindfulness-based interventions (MBIs) on mental health indicators. We performed a systematic review of randomized controlled trials evaluating NIBS/MBIs combinations in clinical populations and a random effects pairwise meta-analysis of studies evaluating anxiety and depression symptoms. After independent trial selection by two authors based on titles/abstracts, and then on full texts, twelve trials were retrieved. There was a large effect size favoring the NIBS/MBIs over the control intervention for anxiety symptoms (Cohen’s d = – 0.82 (- 1.35, – 0.30), I² = 55%, moderate certainty of evidence). As for depression symptoms, there was a small-to-medium effect size that did not reach statistical significance (Cohen’s d = – 0.24 (- 0.61, 0.13), I² = 30%, low certainty of evidence). MBIs/NIBS combination is feasible and well tolerated. There is preliminary evidence for its therapeutic promise. Future studies should inform combination choices by neural correlates of respective interventions and offer patients mindfulness familiarization before implementation of the NIBS/MBIs treatment.Trial registration CRD42022353971.

PMID:39551900 | DOI:10.1007/s00406-024-01928-3

Ann Hematol. 2024 Nov 18. doi: 10.1007/s00277-024-06088-x. Online ahead of print.

ABSTRACT

This study describes the health-related quality of life (HRQoL) and symptom-specific functional impairment of patients with paroxysmal nocturnal hemoglobinuria (PNH) in a real-world setting. US-based adults with PNH treated with a parenterally administered complement inhibitor (PACI) for ≥ 6 months completed an online, cross-sectional, observational survey; a subset of patients also participated in semi-structured qualitative interviews. The survey included the PROMIS^® 29 + 2 Profile v2.1 (PROMIS 29 + 2) to measure HRQoL. The FACIT-Fatigue, Neuro-QOL Item Bank v2.0 Cognitive Function Short Form, and PROMIS Item Bank v1.0 Dyspnea Functional Limitations 10a Short Form measured symptom-specific functional impairment. For each patient with PNH who completed the online survey, 3 age- and sex-matched adults from the general population (GP) also completed the survey. The HRQoL and functional impairment of the PNH sample were compared to that of the GP sample. The association between HRQoL/functional impairment and fatigue severity for the PNH sample was also investigated. Compared to the age- and sex-matched GP sample, patients treated with PACIs for PNH had significantly worse HRQoL and greater functional impairment for all measured domains (p < 0.05). Within the PNH sample, statistically significant associations (p < 0.05) were observed between fatigue severity and HRQoL/functional impairment for all outcomes except the PROMIS 29 + 2 Sleep Disturbance domain. Interview participants described fatigue-related impairments in their physical, social, and cognitive functioning. Despite receiving treatment for PNH, patients experienced deficits in HRQoL and functional impairment, suggesting that opportunities to improve patient-relevant outcomes through treatment should be identified.

PMID:39551895 | DOI:10.1007/s00277-024-06088-x

Hum Genet. 2024 Nov 18. doi: 10.1007/s00439-024-02717-7. Online ahead of print.

ABSTRACT

Ischemic stroke (IS), characterized by complex etiological diversity, is a significant global health challenge. Recent advancements in genome-wide association studies (GWAS) and transcriptomic profiling offer promising avenues for enhanced risk prediction and understanding of disease mechanisms. GWAS summary statistics from the GIGASTROKE Consortium and genetic and phenotypic data from the UK Biobank (UKB) were used. Transcriptome-Wide Association Studies (TWAS) were conducted using FUSION to identify genes associated with IS and its subtypes across eight tissues. Colocalization analysis identified shared genetic variants influencing both gene expression and disease risk. Sum Transcriptome-Polygenic Risk Scores (STPRS) models were constructed by combining polygenic risk scores (PRS) and polygenic transcriptome risk scores (PTRS) using logistic regression. The predictive performance of STPRS was evaluated using the area under the curve (AUC). A Phenome-wide association study (PheWAS) explored associations between STPRS and various phenotypes. TWAS identified 34 susceptibility genes associated with IS and its subtypes. Colocalization analysis revealed 18 genes with a posterior probability (PP) H4 > 75% for joint expression quantitative trait loci (eQTL) and GWAS associations, highlighting their genetic relevance. The STPRS models demonstrated superior predictive accuracy compared to conventional PRS, showing significant associations with numerous UKB phenotypes, including atrial fibrillation and blood pressure. Integrating transcriptomic data with polygenic risk scores through STPRS enhances predictive accuracy for IS and its subtypes. This approach refines our understanding of the genetic and molecular landscape of stroke and paves the way for tailored preventive and therapeutic strategies.

PMID:39551887 | DOI:10.1007/s00439-024-02717-7

J Egypt Natl Canc Inst. 2024 Nov 18;36(1):36. doi: 10.1186/s43046-024-00244-0.

ABSTRACT

BACKGROUND: Podocytopenia refers to a decrease in the number of podocytes. When podocytes are injured, they may detach leading to podocytopenia, which represents a critical step in the development of podocytopathy and subsequently deterioration of renal functions. Pathological assessment of podocytopenia plays a crucial role in diagnosing underlying kidney diseases.

AIM: To assess detached podocytes and evaluate their diagnostic role in the development of focal segmental glomerulosclerosis.

MATERIALS AND METHODS: This is a retrospective study, conducted on 67 archival renal biopsies with the clinical diagnosis of steroid-resistant or steroid-dependent nephrotic syndrome (SRNS) and diagnosed as focal segmental glomerulosclerosis (FSGS) and podocytopathy with detached podocytes by electron microscopy (EM). Colloidal iron stain and Desmin immunohistochemical stain were performed. Assessment of the mean percent of stained pixels in relation to the surface tuft area of the glomerulus, i.e., mean percent of stained area (PSA) was done using image analysis system (ImageJ 1.52a) software.

RESULTS: Podocytopathy with detached podocytes was diagnosed in 35 (52.24%) cases, while FSGS was diagnosed in 32 (47.76%) cases. Regarding detached podocytes, 27 (49.3%) cases showed no detached podocytes by light microscopy (LM), while only 4 (6%) showed severe podocyte detachment. There was a statistically significant difference between control cases and both podocytopathy with detached podocytes and FSGS regarding mean PSA (p ≤ 0.001).

CONCLUSION: Standardized reporting of detached podocyte cells is becoming mandatory as they have a high positive predictive value for the expected EM picture.

PMID:39551885 | DOI:10.1186/s43046-024-00244-0

Commun Med (Lond). 2024 Nov 17;4(1):234. doi: 10.1038/s43856-024-00671-z.

ABSTRACT

BACKGROUND: Cancer screening tests are considered pivotal for early diagnosis and survival. However, the efficacy of these tests for improving survival has recently been questioned. This study aims to test if cancer screening could be improved by biomarkers in peripheral blood based on multi-omics data.

METHODS: We utilize multi-omics data from 500,000 participants in the UK Biobank. Machine learning is applied to search for proteins, metabolites, genetic variants, or clinical variables to diagnose cancers collectively and individually.

RESULTS: Here we show that the overall performance of the potential blood biomarkers do not outperform clinical variables for collective diagnosis. However, we observe promising results for individual cancers in close proximity to peripheral blood, with an Area Under the Curve (AUC) greater than 0.8.

CONCLUSIONS: Our findings suggest that the identification of blood biomarkers for cancer might be complicated by variable overlap between molecular changes in tumor tissues and peripheral blood. This explanation is supported by local proteomics analyses of different tumors, which all show high AUCs, greater than 0.9. Thus, multi-omics biomarkers for the diagnosis of individual cancers may potentially be effective, but not for groups of cancers.

PMID:39551871 | DOI:10.1038/s43856-024-00671-z

Nat Commun. 2024 Nov 17;15(1):9957. doi: 10.1038/s41467-024-54281-3.

ABSTRACT

We study generative diffusion models in the regime where both the data dimension and the sample size are large, and the score function is trained optimally. Using statistical physics methods, we identify three distinct dynamical regimes during the generative diffusion process. The generative dynamics, starting from pure noise, first encounters a speciation transition, where the broad structure of the data emerges, akin to symmetry breaking in phase transitions. This is followed by a collapse phase, where the dynamics is attracted to a specific training point through a mechanism similar to condensation in a glass phase. The speciation time can be obtained from a spectral analysis of the data’s correlation matrix, while the collapse time relates to an excess entropy measure, and reveals the existence of a curse of dimensionality for diffusion models. These theoretical findings are supported by analytical solutions for Gaussian mixtures and confirmed by numerical experiments on real datasets.

PMID:39551866 | DOI:10.1038/s41467-024-54281-3

Sci Rep. 2024 Nov 18;14(1):28401. doi: 10.1038/s41598-024-80025-w.

ABSTRACT

Undersea mining encounters challenges due to the presence of seawater. An influx of seawater into stop in undersea can result in enormous disaster. Predicting strata settlement is a crucial measure to ensure the safety of undersea mining. This study proposed an intelligent model based on deep forest (DF) to evaluate the strata settlement during undersea mining. Initially, the strata displacement was monitored in the Xishan mining area of Sanshandao gold mine, China. Comprehensive datasets encompassing roof displacement and twelve influencing factors were compiled from 120 observations. Then, these datasets were statistically analyzed and used to train the DF model. The developed DF model achieved a training R² of 0.971 and a testing R² of 0.936. Compared with other machine learning models, the DF model has superior performance in the prediction of strata settlement. Moreover, a graphical user interface was designed to facilitate the application of the DF model. Finally, to validate model feasibility, displacement monitoring was conducted in the Xinli mining area of Sanshandao gold mine. Additional datasets were collected to validate the capability of the DF model. The results suggested that the DF model can be used to predict strata subsidence in undersea mining effectively.

PMID:39551852 | DOI:10.1038/s41598-024-80025-w

Chin J Integr Med. 2024 Nov 18. doi: 10.1007/s11655-024-4001-4. Online ahead of print.

ABSTRACT

OBJECTIVE: To evaluate the clinical efficacy and safety of Yangxue Qingnao Pills (YXQNP) combined with amlodipine in treating patients with grade 1 hypertension.

METHODS: This is a multicenter, randomized, double-blind, and placebo-controlled study. Adult patients with grade 1 hypertension of blood deficiency and Gan (Liver)-yang hyperactivity syndrome were randomly divided into the treatment or the control groups at a 1:1 ratio. The treatment group received YXQNP and amlodipine besylate, while the control group received YXQNP’s placebo and amlodipine besylate. The treatment duration lasted for 180 days. Outcomes assessed included changes in blood pressure, Chinese medicine (CM) syndrome scores, symptoms and target organ functions before and after treatment in both groups. Additionally, adverse events, such as nausea, vomiting, rash, itching, and diarrhea, were recorded in both groups.

RESULTS: A total of 662 subjects were enrolled, of whom 608 (91.8%) completed the trial (306 in the treatment and 302 in the control groups). After 180 days of treatment, the standard deviations and coefficients of variation of systolic and diastolic blood pressure levels were lower in the treatment group compared with the control group. The improvement rates of dizziness, headache, insomnia, and waist soreness were significantly higher in the treatment group compared with the control group (P<0.05). After 30 days of treatment, the overall therapeutic effects on CM clinical syndromes were significantly increased in the treatment group as compared with the control group (P<0.05). After 180 days of treatment, brachial-ankle pulse wave velocity, ankle brachial index and albumin-to-creatinine ratio were improved in both groups, with no statistically significant differences (P>0.05). No serious treatment-related adverse events occurred during the study period.

CONCLUSIONS: Combination therapy of YXQNP with amlodipine significantly improved symptoms such as dizziness and headache, reduced blood pressure variability, and showed a trend toward lowering urinary microalbumin in hypertensive patients. These findings suggest that this regimen has good clinical efficacy and safety. (Registration No. ChiCTR1900022470).

PMID:39551851 | DOI:10.1007/s11655-024-4001-4

Neurol Sci. 2024 Nov 18. doi: 10.1007/s10072-024-07859-0. Online ahead of print.

ABSTRACT

BACKGROUND AND OBJECTIVES: The incidence of ischemic stroke in young adults has increased substantially. There are limited data in the literature concerning the short-term clinical outcome in young adults with acute stroke after revascularization treatment. Due to the lack of available data on gender differences short-term clinical outcome, we designed the present study.

MATERIALS AND METHODS: We collected data from 127 patients aged 50 years or younger consecutively admitted to the Stroke-Unit of “Cardarelli” Hospital in Naples between August 2017 and September 2022 due to ischemic stroke. All of them underwent thrombolysis and/or endovascular treatment.

RESULTS AND CONCLUSIONS: Smoking, hypertension, and dyslipidemia emerged as the most prevalent risk factors. A gender-based analysis revealed that the history of stroke was the only statistically significant factor more frequently observed in the female group. The leading stroke etiology was “cardioembolism,” succeeded by strokes of “other determined origin”, “undetermined etiology,” “large-artery atherosclerosis,” and “small-artery occlusion.” Concerning reperfusion therapy, intravenous thrombolysis ranked as the most utilized treatment, followed by “bridging” therapy (combining intravenous thrombolytic therapy with thrombectomy) and primary mechanical thrombectomy. Notably, the average NIHSS scores 7 days post-revascularization were lower among females compared to males, constituting a statistically significant distinction. Nevertheless, no statistically significant correlation surfaced between gender and treatment type in NIHSS mean values at admission, 2 hours, 24 hours post-revascularization, or 7 days post-revascularization. This suggests that the observed disparity in mean NIHSS score between male and female groups after 7 days may potentially stem from other factors, such as endogenous estrogens.

PMID:39551848 | DOI:10.1007/s10072-024-07859-0

NPJ Precis Oncol. 2024 Nov 17;8(1):263. doi: 10.1038/s41698-024-00754-z.

ABSTRACT

Accurate treatment response assessment using serial CT scans is essential in oncological clinical trials. However, oncologists’ assessment following the Response Evaluation Criteria in Solid Tumors (RECIST) guideline is subjective, time-consuming, and sometimes fallible. Advanced liver cancer often presents multifocal hepatic lesions on CT imaging, making accurate characterization more challenging than with other malignancies. In this work, we developed a tumor volume guided comprehensive objective response evaluation based on deep learning (RECORD) for liver cancer. RECORD performs liver tumor segmentation, followed by sum of the volume (SOV)-based treatment response classification and new lesion assessment. Then, it can provide treatment evaluations of response, stability, and progression, and calculates progression-free survival (PFS) and response time. The RECORD pipeline was developed with both CNN and ViT backbones. Its performance was evaluated in three longitudinal cohorts involving 60 multi-national centers, 206 patients, 891 CT scans, using internal five-fold cross-validation and external validations. RECORD with the most effective backbone achieved an average AUC-response of 0.981, AUC-stable of 0.929, and AUC-progression of 0.969 for SOV-based disease status classification, F1-score of 0.887 for new lesion identification, and accuracy of 0.889 for final treatment outcome assessments across all cohorts. RECORD’s PFS and response time predictions strongly correlated with clinician’s assessments (P < 0.001). Moreover, RECORD can better stratify high-risk versus low-risk patients for overall survival compared to the human-assessed RECIST results. In conclusion, RECORD demonstrates efficiency and objectivity in analyzing liver lesions for treatment response evaluation. Further research should extend the pipeline to other metastatic organ sites.

PMID:39551847 | DOI:10.1038/s41698-024-00754-z